The role of ^mSEPT9 in screening, diagnosis, and recurrence monitoring of colorectal cancer.

ABSTRACT:

Background

The application of circulating, cell-free, methylated Septin9 (^mSEPT9) DNA in screening and recurrence monitoring is highly promising. CpG island methylator phenotype (CIMP) is associated with microsatellite instability (MSI). The present study was performed to determine the diagnostic accuracy of ^mSEPT9 for colorectal cancer (CRC) and to evaluate its utility in CRC screening and recurrence monitoring.

Methods

For screening and diagnosis of CRC, peripheral ^mSEPT9 detection and fecal occult blood test (FOBT) were performed in 650 subjects, then the level of CEA, CA19-9 and CA724 was quantified in 173 subjects. Clinicopathological parameters and mismatch repair protein were detected among subjects with CRC. For recurrence monitoring of CRC, the sensitivity of ^mSEPT9 of 70 subjects was compared with tumor markers and contrast enhanced computed tomography (CECT).

Results

Seventy-three percent of CRC patients were ^mSEPT9-positive at 94.5% specificity, and 17.1% of patients with intestinal polyps and adenoma were ^mSEPT9-positive at 94.5% specificity, which were higher than FOBT for the screening of CRC. The sensitivity and specificity of ^mSEPT9 for diagnosis and recurrence monitoring were higher than that of CEA, CA19-9 and CA724. The combined detection of ^mSEPT9 and CECT enhanced the sensitivity for recurrence monitoring. Pre-therapeutic levels of ^mSEPT9 were strongly associated with TNM stage, Dukes stages and mismatch repair deficiency (dMMR).

Conclusions

^mSEPT9 analysis might be popularized as a routine biomarker for CRC screening. The combined detection of ^mSEPT9 and CECT can play an important role for recurrence monitoring. CIMP was highly associated with the pathological stage of CRC and dMMR.

SUBMITTER: Sun J 

PROVIDER: S-EPMC6518628 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature